Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection.

ABSTRACT: Structural variants drive tumorigenesis by disrupting normal gene function through insertions, inversions, translocations, and copy number changes, including deletions and duplications. Detecting structural variants is crucial for revealing their roles in tumor development, clinical outcomes, and personalized therapy. Presently, most studies rely on short-read data from next-generation sequencing that aligns back to a reference genome to determine if and, if so, where a structural variant occurs. However, structural variant discovery by short-read sequencing is challenging, primarily because of the difficulty in mapping regions of repetitive sequences. Optical genome mapping (OGM) is a recent technology used for imaging and assembling long DNA strands to detect structural variations. To ca

SUBMITTER: Budurlean L 

PROVIDER: S-EPMC10971281 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature